This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the sever... See more...

Aliases for TRMU Gene

Aliases for TRMU Gene

  • TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase 2 3 5
  • Mitochondrial TRNA-Specific 2-Thiouridylase 1 3 4
  • MTO2 Homolog 3 4
  • TRMT1 3 4
  • MTO2 2 3
  • MTU1 3 4
  • Mitochondrial 5-Methylaminomethyl-2-Thiouridylate-Methyltransferase 3
  • TRNA (5-Methylaminomethyl-2-Thiouridylate)-Methyltransferase 2
  • Lung Cancer Associated LncRNA 3 3
  • EC 2.8.1.14 4
  • FLJ10140 2
  • EC 2.8.1 51
  • LCAL3 3
  • TRMT 3
  • TRMU 5

External Ids for TRMU Gene

Previous HGNC Symbols for TRMU Gene

  • TRMT

Previous GeneCards Identifiers for TRMU Gene

  • GC22P045053
  • GC22P045109
  • GC22P046726
  • GC22P029675

Summaries for TRMU Gene

Entrez Gene Summary for TRMU Gene

  • This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for TRMU Gene

TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase) is a Protein Coding gene. Diseases associated with TRMU include Liver Failure, Infantile, Transient and Deafness, Aminoglycoside-Induced. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and tRNA binding.

UniProtKB/Swiss-Prot Summary for TRMU Gene

  • Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.

Gene Wiki entry for TRMU Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRMU Gene

Genomics for TRMU Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRMU Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J046334 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 617.2 +5.0 5007 3 SP1 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 SIX5 NFKBIZ POLR2A ZNF692 TRMU TBC1D22A PKDREJ CDPF1 CELSR1 ENSG00000234869 ENSG00000235159 LINC00899 lnc-TRMU-1 piR-60574
GH22J046328 Promoter 0.3 EPDnew 600.7 -2.0 -1995 0.1 TRMU lnc-TRMU-1 GTSE1 CELSR1 ENSG00000234869 PPARA KR153194-123 lnc-CDPF1-1
GH22J046330 Promoter 0.3 EPDnew 600.7 -0.3 -306 0.1 TRMU lnc-TRMU-1 CDPF1 KR153194-123 GTSE1 lnc-CDPF1-1
GH22J046040 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 69.9 -262.9 -262872 55.2 ZNF221 RNF2 SP1 HNRNPL CREB1 PRDM10 ZNF629 REST RFX1 IKZF1 ENSG00000235159 PRR34 MN297931 PRR34-AS1 MIRLET7BHG CDPF1 TRMU LINC00899 ENSG00000273243 ATXN10
GH22J045978 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 54.1 -352.0 -352040 1.3 HNRNPL CTCF ZNF692 LARP7 PRDM1 ZNF143 ZIC2 ZNF776 ZSCAN4 PATZ1 WNT7B TRMU CDPF1 FBLN1 ENSG00000273243 LINC00899 ENSG00000235159 KIAA0930 NUP50 ENSG00000273145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRMU on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRMU

Top Transcription factor binding sites by QIAGEN in the TRMU gene promoter:
  • aMEF-2
  • c-Myc
  • COMP1
  • E2F
  • E2F-1
  • Max
  • MEF-2
  • MIF-1
  • USF-1
  • USF1

Genomic Locations for TRMU Gene

Genomic Locations for TRMU Gene
chr22:46,330,875-46,357,340
(GRCh38/hg38)
Size:
26,466 bases
Orientation:
Plus strand
chr22:46,726,772-46,753,237
(GRCh37/hg19)
Size:
26,466 bases
Orientation:
Plus strand

Genomic View for TRMU Gene

Genes around TRMU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRMU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRMU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRMU Gene

Proteins for TRMU Gene

  • Protein details for TRMU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75648-MTU1_HUMAN
    Recommended name:
    Mitochondrial tRNA-specific 2-thiouridylase 1
    Protein Accession:
    O75648
    Secondary Accessions:
    • A8K3U7
    • Q05C99
    • Q5W9C8
    • Q66K31
    • Q6ICC3
    • Q9NWC1

    Protein attributes for TRMU Gene

    Size:
    421 amino acids
    Molecular mass:
    47745 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • During the reaction, ATP is used to activate the C2 atom of U34 by adenylation. After this, the persulfide sulfur on the catalytic cysteine is transferred to the C2 atom of the wobble base (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards the activated C2 atom on U34. Subsequently, a transient disulfide bond is formed between the two active site cysteine residues (By similarity).

    Alternative splice isoforms for TRMU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRMU Gene

Selected DME Specific Peptides for TRMU Gene

O75648:
  • GVFMKNW
  • ATGHYAR
  • CNKHIKF
  • HWIAEEPPA
  • GRTPNPDI
  • GQFAVFYKG
  • LVRDKMMECHFRFRHQMALVPCVLTLNQDG
  • EYEKGRTPNPD
  • IATGHYA
  • KDQTFFL
  • VSYVKEYW
  • LHHVLQK
  • LFRNRFEVRN

Post-translational modifications for TRMU Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TRMU Gene

Gene Families for TRMU Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TRMU Gene

InterPro:
Blocks:
  • tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for TRMU Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52814, highly similar to tRNA(5-methylaminomethyl-2-thiouridylate)-methyltransferase (EC 2.1.1.61) (B4DZN5_HUMAN)
  • MTO2 homolog (MTU1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75648

UniProtKB/Swiss-Prot:

MTU1_HUMAN :
  • Belongs to the MnmA/TRMU family.
Family:
  • Belongs to the MnmA/TRMU family.
genes like me logo Genes that share domains with TRMU: view

Function for TRMU Gene

Molecular function for TRMU Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein]; Xref=Rhea:RHEA:47040, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11726, Rhea:RHEA-COMP:11732, Rhea:RHEA-COMP:11733, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17499, ChEBI:CHEBI:29950, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:61963, ChEBI:CHEBI:87171, ChEBI:CHEBI:87172, ChEBI:CHEBI:456215; EC=2.8.1.14; Evidence={ECO:0000250|UniProtKB:Q12093};.

Enzyme Numbers (IUBMB) for TRMU Gene

Phenotypes From GWAS Catalog for TRMU Gene

Gene Ontology (GO) - Molecular Function for TRMU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA --
GO:0005524 ATP binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with TRMU: view
genes like me logo Genes that share phenotypes with TRMU: view

Human Phenotype Ontology for TRMU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRMU Gene

MGI Knock Outs for TRMU:
  • Trmu Trmu<tm1.1Tomik>

Animal Model Products

  • Taconic Biosciences Mouse Models for TRMU

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRMU

No data available for Transcription Factor Targets and HOMER Transcription for TRMU Gene

Localization for TRMU Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRMU Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRMU gene
Compartment Confidence
mitochondrion 4
nucleus 4
extracellular 3
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRMU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IBA,ISS --
genes like me logo Genes that share ontologies with TRMU: view

Pathways & Interactions for TRMU Gene

PathCards logo

SuperPathways for TRMU Gene

genes like me logo Genes that share pathways with TRMU: view

Pathways by source for TRMU Gene

Gene Ontology (GO) - Biological Process for TRMU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002143 tRNA wobble position uridine thiolation IBA 21873635
GO:0008033 tRNA processing IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with TRMU: view

No data available for SIGNOR curated interactions for TRMU Gene

Drugs & Compounds for TRMU Gene

(1) Drugs for TRMU Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for TRMU Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with TRMU: view

Transcripts for TRMU Gene

mRNA/cDNA for TRMU Gene

7 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRMU

Alternative Splicing Database (ASD) splice patterns (SP) for TRMU Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a ·
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - - - - -
SP11: - - -
SP12: - -
SP13:
SP14:
SP15: -
SP16:
SP17: - -

ExUns: 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e · 13f
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16: -
SP17:

Relevant External Links for TRMU Gene

GeneLoc Exon Structure for
TRMU

Expression for TRMU Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRMU Gene

Protein differential expression in normal tissues from HIPED for TRMU Gene

This gene is overexpressed in Lung (26.8) and Plasma (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRMU Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRMU

mRNA Expression by UniProt/SwissProt for TRMU Gene:

O75648-MTU1_HUMAN
Tissue specificity: Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain.

Evidence on tissue expression from TISSUES for TRMU Gene

  • Lung(4.3)
  • Skin(2.7)
  • Muscle(2.3)
  • Nervous system(2.3)
  • Heart(2.2)
  • Blood(2.1)
  • Kidney(2)
  • Intestine(2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRMU Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • middle ear
  • mouth
  • neck
  • outer ear
  • tongue
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
  • stomach
Limb:
  • forearm
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TRMU: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for TRMU Gene

Orthologs for TRMU Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRMU Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRMU 30 31
  • 96.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRMU 30 31
  • 88.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Trmu 30 17 31
  • 86.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRMU 30 31
  • 86.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trmu 30
  • 86.1 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TRMU 31
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRMU 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRMU 30 31
  • 75.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRMU 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trmu 30
  • 73.23 (n)
Str.12914 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.20115 30
Zebrafish
(Danio rerio)
Actinopterygii trmu 30 31
  • 66.58 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3422 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011960 30
  • 55.23 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3021 30 31
  • 52.43 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea B0035.16 30 31
  • 50.65 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24706g 30
  • 45.41 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLM3 30 31
  • 45.38 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL087C 30
  • 44.69 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G51310 30
  • 46.65 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0174600 30
  • 46.55 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC23H4.04 30
  • 47.31 (n)
Species where no ortholog for TRMU was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRMU Gene

ENSEMBL:
Gene Tree for TRMU (if available)
TreeFam:
Gene Tree for TRMU (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRMU: view image

Paralogs for TRMU Gene

No data available for Paralogs for TRMU Gene

Variants for TRMU Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRMU Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
640226 Pathogenic: not provided 46,350,300(+) TC/T FRAMESHIFT_VARIANT,INTRON_VARIANT
643178 Likely Pathogenic: not provided 46,346,545(+) G/A SPLICE_DONOR_VARIANT
656119 Likely Pathogenic: not provided 46,337,777(+) A/G SPLICE_ACCEPTOR_VARIANT
671698 Benign: not provided 46,352,413(+) T/C INTRON_VARIANT
675588 Benign: not provided 46,352,473(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TRMU Gene

Structural Variations from Database of Genomic Variants (DGV) for TRMU Gene

Variant ID Type Subtype PubMed ID
dgv2469n106 OTHER inversion 24896259
esv3647951 CNV loss 21293372
nsv1066139 CNV gain 25217958
nsv1066865 CNV gain 25217958
nsv1152661 OTHER inversion 26484159
nsv471214 CNV loss 18288195
nsv524100 CNV loss 19592680
nsv829281 CNV gain 20364138
nsv829293 CNV gain 20364138
nsv834225 CNV loss 17160897
nsv955177 CNV deletion 24416366

Variation tolerance for TRMU Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.10; 80.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRMU Gene

Human Gene Mutation Database (HGMD)
TRMU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRMU

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRMU Gene

Disorders for TRMU Gene

MalaCards: The human disease database

(23) MalaCards diseases for TRMU Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TRMU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTU1_HUMAN
  • Deafness, aminoglycoside-induced (DFNI) [MIM:580000]: A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. {ECO:0000269 PubMed:16826519}. Note=The gene represented in this entry acts as a disease modifier. DFNI is caused by mutations in mitochondrial rRNA genes, including homoplasmic A1555G and C1494T mutations in the highly conserved decoding site of the mitochondrial 12S rRNA. Mutated TRMU modulates the phenotypic manifestation of these mutations. {ECO:0000269 PubMed:16826519}.
  • Liver failure, infantile, transient (LFIT) [MIM:613070]: A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. {ECO:0000269 PubMed:19732863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRMU

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TRMU: view

No data available for Genatlas for TRMU Gene

Publications for TRMU Gene

  1. Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases. (PMID: 15509579) Umeda N … Suzuki T (The Journal of biological chemistry 2005) 2 3 4 23
  2. Acute infantile liver failure due to mutations in the TRMU gene. (PMID: 19732863) Zeharia A … Elpeleg O (American journal of human genetics 2009) 3 4 23
  3. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. (PMID: 16513084) Yan Q … Guan MX (Biochemical and biophysical research communications 2006) 3 4 23
  4. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. (PMID: 16826519) Guan MX … Fischel-Ghodsian N (American journal of human genetics 2006) 3 4 23
  5. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase. (PMID: 14746906) Yan Q … Guan MX (Biochimica et biophysica acta 2004) 2 3 23

Products for TRMU Gene

Sources for TRMU Gene